More Genetic Clues to Autoimmune Disorders Discovered

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Researchers say their new findings could lead to targeted therapies for conditions like ulcerative colitis, multiple sclerosis, rheumatoid arthritis, and celiac disease.

Many autoimmune disorders are believed to be passed down from parents
to children, and researchers are closer than ever to unlocking the
genetic secrets of their transmission.

Researchers at the National
Institute of Aging (NIA) have honed in on five of 89 independent
variations in human genetics that are believed to be responsible for
autoimmune conditions, from celiac disease to multiple sclerosis, in
which the body’s defense system mistakenly attacks itself.

Gene Variations and Risk Factors for Disease

A
new study, part of the SardiNIA Study of Aging, shows these gene
variants are associated with how the body produces immune system cells,
in addition to contributing to autoimmune disorders. The study will be
published in the forthcoming issue of the journal Cell.

The
researchers discovered that variations in these particular genes have
“very significant effects” on the number of specific immune system cells
the body produces.

“We know that certain diseases run in
families. From this study, we wanted to know the extent to which
relative immune resistance or susceptibility to disease is inherited in
families,” David Schlessinger, chief of NIA’s Laboratory of Genetics,
said in a statement accompanying the study. “If your mother is rarely
sick, for example, does that mean you don’t have to worry about the bug
that’s going around? Is immunity in the genes? According to our
findings, the answer is yes, at least in part.”

Your genes, the
researchers say, affect the number of cells in your adaptive immune
system, the kind that learns to respond to pathogens by producing,
storing, and transporting specific defensive cells and molecules. While
our immune system has evolved over generations to reject some pathogens
and cancers, too many of these immune defenders can increase a person’s
chance of developing specific autoimmune disorders.

To come to
these conclusions, the NIA examined genetic data from the SardiNIA
study, which involves about 8.2 million gene variants in blood samples
taken from 1,629 people living on the island of Sardinia. Researchers
are focusing on Sardinians because their lineage can be traced back
20,000 years to when the Mediterranean island was first settled.

“We have learned that, in case after case, findings in Sardinia have been applicable world-wide,” said Dr. Francesco Cucca, director of the National Research Council’s Institute of Genetic and Biomedical Research in Italy.

Researchers
believe understanding the genetic component of the body’s immune
response could someday allow for personalized therapies to treat an
overactive immune system response.

Biologic, immunosuppressive
drugs currently on the market can help people with certain autoimmune
disorders, such as Crohn’s disease and psoriasis, but they are often
ineffective or come with unwanted side effects, such as an increased
risk of infection.

So Why Don’t I Have the Disease My Father Does?

While
diseases can be passed down from parent to child, that doesn’t
automatically mean you'll get the disorders your parents suffer from.

Many
autoimmune diseases are brought out by other risk factors, some of
which are preventable. The most common preventable aggravators of
autoimmune diseases include infections, smoking, and heavy alcohol
consumption.

A recent study published in the journal Nature linked a high-salt diet to the increased likelihood of developing an autoimmune disorder.

Autoimmune disorders can also be risk factors for other diseases. One recent study concluded
that autoimmune disorders and infections during childhood are risk
factors for mood disorders, such as depression and bipolar disorder.